Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK p.Cys515Ser (p.C515S)
(
ENST00000308731.8,
ENST00000621635.4,
ENST00000695614.1,
ENST00000695615.1,
ENST00000695617.1,
ENST00000695622.1,
ENST00000695623.1,
ENST00000695625.1,
ENST00000703407.1 )
BTK p.Cys515Ser (p.C515S) ( ENST00000308731.8, ENST00000621635.4, ENST00000695614.1, ENST00000695615.1, ENST00000695617.1, ENST00000695622.1, ENST00000695623.1, ENST00000695625.1, ENST00000703407.1 ) - Associated Disease
- chronic lymphocytic leukemia
- Source Database
- CIViC Evidence
- Description
- In a trial of 308 patients with chronic lymphocytic leukemia treated with ibrutinib, 31 discontinued treatment due to disease progression (13 CLL progression, 18 Richter’s transformation). 11/13 patients were deep sequenced for BTK and PLCG2. 9 patients were identified with BTK mutations (C481S in 8 patients). In 5 patients, C481S was the sole abnormality.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1770
- Gene URL
- https://civic.genome.wustl.edu/links/genes/65
- Variant URL
- https://civic.genome.wustl.edu/links/variants/168
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Chronic Lymphocytic Leukemia
- Evidence Direction
- Supports
- Drug
- Ibrutinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 26182309
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Ibrutinib | Resitance or Non-Reponse | true |